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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
2012
210 citations
Journal Article
bronze Open Access
Field-Weighted Citation Impact:
13.85
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan | Researchclopedia
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Radboud University Medical Center
Moniek Riemersma
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Radboud University Nijmegen
Rolph Pfundt
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Radboud University Medical Center
Lisenka E.L.M. Vissers
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Radboud University Medical Center
Margit Schraders
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Radboud University Medical Center
Umut Altunoğlu
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Istanbul University
Michael F. Buckley
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Radboud University Medical Center
Han G. Brunner
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Radboud University Medical Center
Bernard Grisart
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Institute of Pathology and Genetics
Huiqing Zhou
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Radboud University Nijmegen
Joris A. Veltman
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Radboud University Medical Center
Christian Gilissen
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Radboud University Nijmegen
Grazia M.S. Mancini
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Erasmus MC
P. Delrée
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Institute of Pathology and Genetics
Michèl A.A.P. Willemsen
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Radboud University Medical Center
Danijela Petković Ramadža
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University Hospital Centre Zagreb
David Chitayat
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University of Toronto
Christopher Bennett
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St James's University Hospital
Eamonn Sheridan
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St James's University Hospital
E Peeters
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Medisch Centrum Haaglanden
Gita Tan-Sindhunata
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Amsterdam UMC Location VUmc
C E de Die-Smulders
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Maastricht University Medical Centre
Koenraad Devriendt
Hülya Kayserili
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Istanbul University
Osama Abd El-Fattah El-Hashash
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Farwaniya Hospital
Derek L. Stemple
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Wellcome Sanger Institute
Dirk J. Lefeber
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Radboud University Medical Center
Yung‐Yao Lin
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Wellcome Sanger Institute
Hans van Bokhoven
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Radboud University Nijmegen